Variant (rsID / SNP)

rs267607230

rs267607230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K2. Location: chromosome 19, position 4,110,574. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MAP2K2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:4110574
Cytoband: 19p13.3
HGVS: NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)
Allele change: Missense_P128Q

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 4|Cardio-facio-cutaneous syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.